Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on <i>APC</i> I1307K and cancer risk.

ABSTRACT: While constitutional pathogenic variants in the APC gene cause familial adenomatous polyposis, APC c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data include relatively small sample sizes, generating inconclusive results regarding cancer risk, particularly in non-Ashkenazi populations. This has led to different country/continental-specific guidelines regarding genetic testing, clinical management and surveillance recommendations for I1307K. A multidisciplinary international expert group endorsed by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), has generated a position statement on the APC I1307K all

SUBMITTER: Valle L 

PROVIDER: S-EPMC10646901 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature